IGH@

From WikiMD's Wellnesspedia

IGH@ is a gene located on chromosome 14 that encodes the constant region of the immunoglobulin heavy chain, one of the essential components of antibodies in the immune system.

Structure[edit | edit source]

The IGH@ gene is part of the larger immunoglobulin heavy chain locus, which also includes the variable (V), diversity (D), and joining (J) segments. These segments are rearranged during B cell development to create a diverse repertoire of antibodies. The constant region of the heavy chain, encoded by the IGH@ gene, does not vary between different antibodies and is responsible for the effector functions of the antibody, such as binding to Fc receptors on immune cells.

Function[edit | edit source]

The IGH@ gene is critical for the immune response. The antibodies produced by B cells recognize foreign antigens, triggering an immune response that can include neutralization of the antigen, opsonization to enhance phagocytosis, or activation of the complement system to destroy the antigen. The constant region of the heavy chain, encoded by the IGH@ gene, is responsible for these effector functions.

Clinical significance[edit | edit source]

Mutations in the IGH@ gene can lead to immunodeficiency, as the body is unable to produce effective antibodies. Conversely, overactivity of the IGH@ gene can contribute to autoimmune diseases, where the immune system mistakenly attacks the body's own tissues. The IGH@ gene is also a common site of translocations in B cell malignancies, such as multiple myeloma and certain types of non-Hodgkin lymphoma.

See also[edit | edit source]

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Contributors: Prab R. Tumpati, MD